Mondo Disease Ontology

Last uploaded: January 7, 2025
Preferred Name

fumaric aciduria
Synonyms

FMRD

fumarate hydratase deficiency

fumaric aciduria

fumarase deficiency

Definitions

Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.

ID

http://purl.obolibrary.org/obo/MONDO_0011730

database_cross_reference

GARD:6476

UMLS:C0342770

OMIM:606812

MESH:C538191

Orphanet:24

NANDO:2200520

ICD9:282.3

SCTID:237983002

MEDGEN:87458

DOID:0111261

definition

Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.

has_exact_synonym

fumaric aciduria

fumarase deficiency

has_related_synonym

FMRD

fumarate hydratase deficiency

id

MONDO:0011730

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare

label

fumaric aciduria

notation

MONDO:0011730

prefLabel

fumaric aciduria

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C0342770

http://identifiers.org/snomedct/237983002

http://purl.obolibrary.org/obo/DOID_0111261

http://purl.obolibrary.org/obo/Orphanet_24

http://identifiers.org/medgen/87458

http://identifiers.org/mesh/C538191

https://omim.org/entry/606812

treeView

http://purl.obolibrary.org/obo/MONDO_0016790

http://purl.obolibrary.org/obo/MONDO_0020127

http://purl.obolibrary.org/obo/MONDO_0004069

subClassOf

http://purl.obolibrary.org/obo/MONDO_0016790

http://purl.obolibrary.org/obo/MONDO_0020127

http://purl.obolibrary.org/obo/MONDO_0004069

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